Reclassification of the HPGD p.Ala13Glu variant causing primary hypertrophic osteoarthropathy.

Here, we highlight the case of a 31-yr-old man who had clinical features of primary hypertrophic osteoarthropathy (PHOAR) and harbored a homozygous variant (c.38C > A, p.Ala13Glu) in the HPGD gene, as indicated by whole-exome sequencing (WES). This variant has been previously classified by our laboratory as a variant of uncertain significance (VUS). However, another patient with the same phenotype and the same homozygous variant in HPGD was subsequently reported. In reassessing the variant, the absence of this variant in the gnomAD population database, supporting computational predictions, observation in homozygosity in two probands, and specificity of the phenotype for HPGD, all provide sufficient evidence to reclassify the HPGD c.38C > A, p.Ala13Glu variant as likely pathogenic.

Surgery for early-stage lung cancer with video-assisted thoracoscopic surgery versus open thoracotomy: A narrative review.

Recommending video-assisted thoracic surgery (VATS) over open thoracotomy to patients with early-stage non-small-cell lung cancer (NSCLC) is controversial. Accordingly, we reviewed randomized comparative studies to determine the risks and benefits of VATS lobectomy. Electronic searches on PubMed with standard search terms revealed 97 comparative studies published between 1990 and 2022. Of those, only 5 were randomized controlled clinical trials (RCT) and 1 is still ongoing although initial data has been published as an abstract form. A total of 918 patients were evaluated in 5 RCT's. All studies included patients with known or suspected primary lung cancer randomized in a 1:1 ratio to VATS or thoracotomy. Between 2 studies, reports of 1-year, 3-year and 5-year overall survival were found to be similar across surgical modalities. Additionally, no differences were found in the rates of locoregional and distant recurrence. Three studies reported no statistical differences in the number of hilar and mediastinal lymph nodes sampled. Two studies found decreased length of stay following VATS (4 days v 5 days, P = 0.027 and P = 0.008), while 2 found no difference. Increased in-hospital complications were seen in 2 studies (P = 0.008 and P = 0.039). VATS was associated with decreased pain scores, better self-reported QOL at 52 weeks (P = 0.014). Few randomized clinical trials comparing VATS lobectomy to open thoracotomy and lobectomy in early stage NSCLC have been reported. These studies suggest that VATS lobectomy offers similar outcomes with decreased in-hospital complications, pain, length of stay, and improved physical functioning when compared to thoracotomy.

Video-Based Education in Lung Cancer Screening.

Lung cancer (LC) is the leading cause of cancer mortality in the USA; the American Cancer Society (ACS) estimates upwards of 220,000 new cases will be diagnosed this year. Recently, the Center for Medicare/Medicaid Services (CMS) agreed to cover LC screening with low-dose computed tomography (CT) for patients; however, CMS requires prior documentation of a shared decision-making (SDM) visit between the patient and the referring clinician to inform them about risks of screening. LC screening programs have begun to use YouTube for patient recruitment, education, and marketing of screening. The objective of this study is to shed light on the role of YouTube in lung cancer screening in terms of guidelines, screening options, target population, steps after screening, and risks and benefits of screening. We searched YouTube.com ™ to identify videos dealing with lung screening using the keywords: lung cancer screening. Videos without sound, uploaded before 2009, longer than 20 min, duplicate videos, and videos in a language other than English were excluded. This method yielded 123 videos that fit criteria. Videos were coded for inclusion of LC screening process, risks and benefits of screening, screening guidelines, risk factors for LC, and treatment options after LC diagnosis. One hundred twenty-three videos had a cumulative 261,261 views across all videos. A total of 38.7% of the videos included no mention of United States Preventive Services Task Force (USPSTF) or CMS guidelines for LC screening. Only 30% included any mention of the risks associated with screening: 14% mentioned false positives, 12% radiation, and 4% anxiety associated with screening. Ninety-two percent of all videos sampled were intended for patients, and the majority of videos were created by medical institutions (66%) and news channels (17%). Lung cancer screening videos on YouTube's platform have garnered a substantial amount of views. While all videos sampled highlighted the benefits of LC screening, the majority fail to discuss the risks associated with the screening process. Most videos were produced for marketing purposes rather than educational and therefore should not be used as a substitute for SDM visits.